Cystic Fibrosis Flashcards
Difference between Normal CFTR and Mutant CFTR:
Normal CFTR channel moves chloride ions to the outside of the cell
Mutant CFTR channel does not move chloride ions, causing sticky mucus to build up on the outside of the cell
Cystic fibrosis is caused by
mutations in a gene on chromosome 7 encoding the protein subsequently termed the CFTR gene.
More than 1800 mutations have been reported to the Cystic Fibrosis Genetic Analysis Consortium.
Most of these mutations are rare, and only four mutations occur in a frequency of more than 1%.
What does 7q31 2 mean?
People with CF inherited two copies of a defective gene – one copy from each parent.
The CFTR gene is located on the long arm (q) of chromosome 7 (7q31. 2).
People with only one copy of the defective CF gene are called carriers.
What does 7q31 2 mean?
People with CF inherited two copies of a defective gene – one copy from each parent.
The CFTR gene is located on the long arm (q) of chromosome 7 (7q31. 2).
People with only one copy of the defective CF gene are called carriers.
Cystic Fibrosis etymology
Cystic= Cyst formation
Fibrosis= Thickening & scarring of connective tissue
